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1. Full Text Clinical features and prognostic factors of listeriosis: the MONALISA national prospective cohort study
by Charlier, Caroline, Dr and Perrodeau, Élodie, MSc and Leclercq, Alexandre, MSc and Cazenave, Benoît, MD and Pilmis, Benoît, MD and Henry, Benoît, MD and Lopes, Amanda, MD and Maury, Mylène M, PhD and Moura, Alexandra, PhD and Goffinet, François, MD and Dieye, Hélène Bracq and Thouvenot, Pierre and Ungeheuer, Marie-Noëlle, MD and Tourdjman, Mathieu, MD and Goulet, Véronique, MD and de Valk, Henriette, MD and Lortholary, Olivier, Prof and Ravaud, Philippe, Prof and Lecuit, Marc, Prof and MONALISA Study Grp and MONALISA study group
Lancet Infectious Diseases, The, ISSN 1473-3099, 2017, Volume 17, Issue 5, pp. 510 - 519
Summary Background Listeriosis is a severe foodborne infection and a notifiable disease in France. We did a nationwide prospective study to characterise its... 
Infectious Disease | MORTALITY | MENINGITIS | INFECTIOUS DISEASES | MONOCYTOGENES | RISK-FACTORS | MANAGEMENT | GUIDELINES | SURVEILLANCE | PREGNANCY | Foodborne Diseases - microbiology | Infant, Newborn, Diseases - epidemiology | Prognosis | Prospective Studies | Humans | Listeriosis - diagnosis | Bacteremia - mortality | Male | Infant, Newborn, Diseases - microbiology | Listeriosis - epidemiology | Mandatory Reporting | Listeria monocytogenes - classification | Adult | Female | Pregnancy Complications, Infectious - microbiology | Infant, Newborn | Meningoencephalitis - epidemiology | France - epidemiology | Meningoencephalitis - mortality | Pregnancy Complications, Infectious - epidemiology | Risk Factors | Listeria monocytogenes - isolation & purification | Hospitalization | Infectious Disease Transmission, Vertical | Pregnancy | Meningoencephalitis - microbiology | Bacteremia - epidemiology | Listeriosis - microbiology | Aged | Population Surveillance | Listeriosis | Neonates | Food-borne diseases | Disease | Brain stem | Clinical trials | Infections | Genomes | Gestation | Epidemiology | Risk factors | Windows (intervals) | Listeria | Meningitis | Public health | Food | Dexamethasone | Bacterial infections | Mortality | Fetuses | Regression analysis | Clustering | Patients | Bacteremia | Meningoencephalitis | Studies | Surveillance | Medical prognosis | Health risk assessment | Cancer | Life Sciences
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2. Full Text MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections
by Barbier, Mathieu and Gross, Marie-Sylvie and Aubart, Mélodie and Hanna, Nadine and Kessler, Ketty and Guo, Dong-Chuan and Tosolini, Laurent and Ho-Tin-Noe, Benoit and Regalado, Ellen and Varret, Mathilde and Abifadel, Marianne and Milleron, Olivier and Odent, Sylvie and Dupuis-Girod, Sophie and Faivre, Laurence and Edouard, Thomas and Dulac, Yves and Busa, Tiffany and Gouya, Laurent and Milewicz, Dianna M and Jondeau, Guillaume and Boileau, Catherine
The American Journal of Human Genetics, ISSN 0002-9297, 12/2014, Volume 95, Issue 6, pp. 736 - 743
Thoracic aortic aneurysm and dissection (TAAD) is an autosomal-dominant disorder with major life-threatening complications. The disease displays great genetic... 
Glycoproteins - genetics | Haploinsufficiency - genetics | Aneurysm, Dissecting - genetics | Aortic Aneurysm, Thoracic - genetics | Contractile Proteins - genetics | Humans | Middle Aged | Glycoproteins - metabolism | Male | Codon, Nonsense | Sequence Analysis, DNA | Aortic Aneurysm, Thoracic - physiopathology | Exome - genetics | Aneurysm, Dissecting - physiopathology | Pedigree | Adolescent | Aged, 80 and over | Fibroblasts | Adult | Female | Aged | Contractile Proteins - metabolism | Child | Amino Acid Substitution | Genetic research | Aortic aneurysms | Genetic aspects | Research | Gene mutations | Aneurysms | Genetics | Mutation | Pathogenesis | Dissection | Cells | Report
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3. Full Text Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)
by Poirier, Karine and Keays, David A and Francis, Fiona and Saillour, Yoann and Bahi, Nadia and Manouvrier, Sylvie and Fallet‐Bianco, Catherine and Pasquier, Laurent and Toutain, Annick and Tuy, Françoise Phan Dinh and Bienvenu, Thierry and Joriot, Sylvie and Odent, Sylvie and Ville, Dorothée and Desguerre, Isabelle and Goldenberg, Alice and Moutard, Marie‐Laure and Fryns, Jean‐Pierre and van Esch, Hilde and Harvey, Robert J and Siebold, Christian and Flint, Jonathan and Beldjord, Chérif and Chelly, Jamel
Human Mutation, ISSN 1059-7794, 11/2007, Volume 28, Issue 11, pp. 1055 - 1064
We have recently reported a missense mutation in exon 4 of the tubulin alpha 1A ( Tuba1a ) gene in a hyperactive N‐ethyl‐N‐nitrosourea (ENU) induced mouse... 
epilepsy | mental retardation | lissencephaly | TUBA1A | TUBA3 | neuronal migration | Neuronal migration | Lissencephaly | Mental retardation | Epilepsy | BETA-TUBULIN | MICROTUBULE-ASSOCIATED PROTEIN | CORTICAL DEVELOPMENT | DOUBLE CORTEX SYNDROME | SUBCORTICAL LAMINAR HETEROTOPIA | GENE | GENETICS & HEREDITY | DOUBLECORTIN-LIKE-KINASE | HIPPOCAMPAL ABNORMALITIES | CEREBELLAR HYPOPLASIA | DNA - genetics | Brain - embryology | Phenotype | In Situ Hybridization | Humans | RNA, Messenger - genetics | Brain Diseases - genetics | Polymerase Chain Reaction | Tubulin - genetics | Brain - abnormalities | Mutation, Missense
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4. Full Text Primal health research in the age of epigenetic clocks
by Odent, Sylvie and Odent, Michel
Medical Hypotheses, ISSN 0306-9877, 12/2019, Volume 133, p. 109403
In the field of developmental origins of health and diseases among humans, classical epidemiology has limited power. We hypothesize that widely available... 
Life Sciences
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5. 22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency
by Jaillard, Sylvie and Tucker, Elena J and Akloul, Linda and Beaumont, Marion and Domin, Mathilde and Pasquier, Laurent and Jouve, Guilhem and Odent, Sylvie and Belaud-Rotureau, Marc-Antoine and Ravel, Célia
Journal of Human Genetics, ISSN 1434-5161, 05/2018, Volume 63, Issue 5, pp. 691 - 698
Ovarian reserve represents the number of available follicles/oocytes within ovaries and it can be assessed by follicle stimulating hormone levels,... 
CANDIDATE GENES | GENETICS & HEREDITY | DUPLICATION | IDENTIFICATION | FAILURE | EXPRESSION | LOCUS | DELETION SYNDROME
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6. Full Text Non‐USH2A mutations in USH2 patients
by Besnard, Thomas and Vaché, Christel and Baux, David and Larrieu, Lise and Abadie, Caroline and Blanchet, Catherine and Odent, Sylvie and Blanchet, Patricia and Calvas, Patrick and Hamel, Christian and Dollfus, Hélène and Lina‐Granade, Geneviève and Lespinasse, James and David, Albert and Isidor, Bertrand and Morin, Gilles and Malcolm, Sue and Tuffery‐Giraud, Sylvie and Claustres, Mireille and Roux, Anne‐Françoise
Human Mutation, ISSN 1059-7794, 03/2012, Volume 33, Issue 3, pp. 504 - 510
We have systematically analyzed the two known minor genes involved in Usher syndrome type 2, DFNB31 and GPR98 , for mutations in a cohort of 31 patients not... 
DFNB31 | molecular analysis | Usher syndrome | GPR98 | functional analysis | Molecular analysis | Functional analysis | CELLS | GENETIC DIAGNOSIS | PROTEIN NETWORK | ISOFORM | SPLICING SIGNALS | VLGR1 | PATHOGENESIS | WHIRLIN | FREQUENCY | GENETICS & HEREDITY | Haplotypes | Usher Syndromes - genetics | Membrane Proteins - genetics | Extracellular Matrix Proteins - genetics | Humans | Polymerase Chain Reaction | Receptors, G-Protein-Coupled - genetics | Mutation | Life Sciences | Human health and pathology | Genetics | Sensory Organs
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7. Full Text Role of genetics in the etiology of autistic spectrum disorder: Towards a hierarchical diagnostic strategy
by Robert, Cyrille and Pasquier, Laurent and Cohen, David and Fradin, Mélanie and Canitano, Roberto and Damaj, Léna and Odent, Sylvie and Tordjman, Sylvie
International Journal of Molecular Sciences, ISSN 1661-6596, 03/2017, Volume 18, Issue 3, pp. 618 - 618
Progress in epidemiological, molecular and clinical genetics with the development of new techniques has improved knowledge on genetic syndromes associated with... 
Autism | Child psychiatric and psychological assessment | Hierarchical diagnostic strategy | Clinical genetics | Genetic disorders | Neuropediatric evaluation | NEONATAL RISK-FACTORS | MENTAL-RETARDATION | RETT-SYNDROME | genetic disorders | BIOCHEMISTRY & MOLECULAR BIOLOGY | neuropediatric evaluation | LEMLI-OPITZ-SYNDROME | ANGELMAN-SYNDROME | BEHAVIORAL-PHENOTYPE | CHEMISTRY, MULTIDISCIPLINARY | autism | PERVASIVE DEVELOPMENTAL DISORDERS | clinical genetics | FRAGILE-X-SYNDROME | hierarchical diagnostic strategy | PRADER-WILLI-SYNDROME | child psychiatric and psychological assessment | 22Q13 DELETION SYNDROME | Autism Spectrum Disorder - genetics | Genetic Predisposition to Disease | Autism Spectrum Disorder - epidemiology | Humans | Genetic Diseases, Inborn - epidemiology | Autism Spectrum Disorder - etiology | Autism Spectrum Disorder - diagnosis | Life Sciences | Human health and pathology
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8. Full Text A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement
by Prasad, Megana K and Geoffroy, Véronique and Vicaire, Serge and Jost, Bernard and Dumas, Michael and Le Gras, Stéphanie and Switala, Marzena and Gasse, Barbara and Laugel-Haushalter, Virginie and Paschaki, Marie and Leheup, Bruno and Droz, Dominique and Dalstein, Amelie and Loing, Adeline and Grollemund, Bruno and Muller-Bolla, Michèle and Lopez-Cazaux, Séréna and Minoux, Maryline and Jung, Sophie and Obry, Frédéric and Vogt, Vincent and Davideau, Jean-Luc and Davit-Beal, Tiphaine and